Name: rs386367519
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs386367519

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:84306645-84306663 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₄ / delAAA / delAA / delA / …
del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₇ / dup(A)₉ / dup(A)₁₁ / dup(A)₁₄ / dup(A)₁₅
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₉=0.2835 (1340/4727, ALFA)
(A)₁₉=0.45 (18/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SAMD13 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	4727	AAAAAAAAAAAAAAAAAAA=0.2835	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.6867, AAAAAAAAAAAAAAAAAAAAAA=0.0167, AAAAAAAAAAAAAAAAAAAAA=0.0131	0.265597	0.671569	0.062834	32
European	Sub	4325	AAAAAAAAAAAAAAAAAAA=0.2185	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.7494, AAAAAAAAAAAAAAAAAAAAAA=0.0178, AAAAAAAAAAAAAAAAAAAAA=0.0143	0.195205	0.736301	0.068493	32
African	Sub	342	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	16	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	326	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	2	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	14	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	8	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	36	AAAAAAAAAAAAAAAAAAA=0.81	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.14, AAAAAAAAAAAAAAAAAAAAAA=0.06, AAAAAAAAAAAAAAAAAAAAA=0.00	0.823529	0.117647	0.058824	6

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	4727	(A)₁₉=0.2835	del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.6867, dupAA=0.0131, dupAAA=0.0167
Allele Frequency Aggregator	European	Sub	4325	(A)₁₉=0.2185	del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.7494, dupAA=0.0143, dupAAA=0.0178
Allele Frequency Aggregator	African	Sub	342	(A)₁₉=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	36	(A)₁₉=0.81	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.14, dupAA=0.00, dupAAA=0.06
Allele Frequency Aggregator	Latin American 2	Sub	14	(A)₁₉=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	8	(A)₁₉=1.0	del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Asian	Sub	2	(A)₁₉=1.0	del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₁₉=0	del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupA=0.55

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 1	NC_000001.11:g.84306660_84306663del
GRCh38.p14 chr 1	NC_000001.11:g.84306661_84306663del
GRCh38.p14 chr 1	NC_000001.11:g.84306662_84306663del
GRCh38.p14 chr 1	NC_000001.11:g.84306663del
GRCh38.p14 chr 1	NC_000001.11:g.84306663dup
GRCh38.p14 chr 1	NC_000001.11:g.84306662_84306663dup
GRCh38.p14 chr 1	NC_000001.11:g.84306661_84306663dup
GRCh38.p14 chr 1	NC_000001.11:g.84306660_84306663dup
GRCh38.p14 chr 1	NC_000001.11:g.84306659_84306663dup
GRCh38.p14 chr 1	NC_000001.11:g.84306657_84306663dup
GRCh38.p14 chr 1	NC_000001.11:g.84306655_84306663dup
GRCh38.p14 chr 1	NC_000001.11:g.84306653_84306663dup
GRCh38.p14 chr 1	NC_000001.11:g.84306650_84306663dup
GRCh38.p14 chr 1	NC_000001.11:g.84306649_84306663dup
GRCh37.p13 chr 1	NC_000001.10:g.84772343_84772346del
GRCh37.p13 chr 1	NC_000001.10:g.84772344_84772346del
GRCh37.p13 chr 1	NC_000001.10:g.84772345_84772346del
GRCh37.p13 chr 1	NC_000001.10:g.84772346del
GRCh37.p13 chr 1	NC_000001.10:g.84772346dup
GRCh37.p13 chr 1	NC_000001.10:g.84772345_84772346dup
GRCh37.p13 chr 1	NC_000001.10:g.84772344_84772346dup
GRCh37.p13 chr 1	NC_000001.10:g.84772343_84772346dup
GRCh37.p13 chr 1	NC_000001.10:g.84772342_84772346dup
GRCh37.p13 chr 1	NC_000001.10:g.84772340_84772346dup
GRCh37.p13 chr 1	NC_000001.10:g.84772338_84772346dup
GRCh37.p13 chr 1	NC_000001.10:g.84772336_84772346dup
GRCh37.p13 chr 1	NC_000001.10:g.84772333_84772346dup
GRCh37.p13 chr 1	NC_000001.10:g.84772332_84772346dup

Gene: SAMD13, sterile alpha motif domain containing 13 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SAMD13 transcript variant 1	NM_001010971.3:c.95+3373_… NM_001010971.3:c.95+3373_95+3376del	N/A	Intron Variant
SAMD13 transcript variant 2	NM_001134663.2:c.53+3373_… NM_001134663.2:c.53+3373_53+3376del	N/A	Intron Variant
SAMD13 transcript variant 3	NM_001134664.2:c.53+3373_… NM_001134664.2:c.53+3373_53+3376del	N/A	Intron Variant
SAMD13 transcript variant X1	XM_017000377.3:c.113+3373… XM_017000377.3:c.113+3373_113+3376del	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₁₉=	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₇	dup(A)₉	dup(A)₁₁	dup(A)₁₄	dup(A)₁₅
GRCh38.p14 chr 1	NC_000001.11:g.84306645_84306663=	NC_000001.11:g.84306660_84306663del	NC_000001.11:g.84306661_84306663del	NC_000001.11:g.84306662_84306663del	NC_000001.11:g.84306663del	NC_000001.11:g.84306663dup	NC_000001.11:g.84306662_84306663dup	NC_000001.11:g.84306661_84306663dup	NC_000001.11:g.84306660_84306663dup	NC_000001.11:g.84306659_84306663dup	NC_000001.11:g.84306657_84306663dup	NC_000001.11:g.84306655_84306663dup	NC_000001.11:g.84306653_84306663dup	NC_000001.11:g.84306650_84306663dup	NC_000001.11:g.84306649_84306663dup
GRCh37.p13 chr 1	NC_000001.10:g.84772328_84772346=	NC_000001.10:g.84772343_84772346del	NC_000001.10:g.84772344_84772346del	NC_000001.10:g.84772345_84772346del	NC_000001.10:g.84772346del	NC_000001.10:g.84772346dup	NC_000001.10:g.84772345_84772346dup	NC_000001.10:g.84772344_84772346dup	NC_000001.10:g.84772343_84772346dup	NC_000001.10:g.84772342_84772346dup	NC_000001.10:g.84772340_84772346dup	NC_000001.10:g.84772338_84772346dup	NC_000001.10:g.84772336_84772346dup	NC_000001.10:g.84772333_84772346dup	NC_000001.10:g.84772332_84772346dup
SAMD13 transcript variant 1	NM_001010971.2:c.95+3358=	NM_001010971.2:c.95+3373_95+3376del	NM_001010971.2:c.95+3374_95+3376del	NM_001010971.2:c.95+3375_95+3376del	NM_001010971.2:c.95+3376del	NM_001010971.2:c.95+3376dup	NM_001010971.2:c.95+3375_95+3376dup	NM_001010971.2:c.95+3374_95+3376dup	NM_001010971.2:c.95+3373_95+3376dup	NM_001010971.2:c.95+3372_95+3376dup	NM_001010971.2:c.95+3370_95+3376dup	NM_001010971.2:c.95+3368_95+3376dup	NM_001010971.2:c.95+3366_95+3376dup	NM_001010971.2:c.95+3363_95+3376dup	NM_001010971.2:c.95+3362_95+3376dup
SAMD13 transcript variant 1	NM_001010971.3:c.95+3358=	NM_001010971.3:c.95+3373_95+3376del	NM_001010971.3:c.95+3374_95+3376del	NM_001010971.3:c.95+3375_95+3376del	NM_001010971.3:c.95+3376del	NM_001010971.3:c.95+3376dup	NM_001010971.3:c.95+3375_95+3376dup	NM_001010971.3:c.95+3374_95+3376dup	NM_001010971.3:c.95+3373_95+3376dup	NM_001010971.3:c.95+3372_95+3376dup	NM_001010971.3:c.95+3370_95+3376dup	NM_001010971.3:c.95+3368_95+3376dup	NM_001010971.3:c.95+3366_95+3376dup	NM_001010971.3:c.95+3363_95+3376dup	NM_001010971.3:c.95+3362_95+3376dup
SAMD13 transcript variant 2	NM_001134663.1:c.53+3358=	NM_001134663.1:c.53+3373_53+3376del	NM_001134663.1:c.53+3374_53+3376del	NM_001134663.1:c.53+3375_53+3376del	NM_001134663.1:c.53+3376del	NM_001134663.1:c.53+3376dup	NM_001134663.1:c.53+3375_53+3376dup	NM_001134663.1:c.53+3374_53+3376dup	NM_001134663.1:c.53+3373_53+3376dup	NM_001134663.1:c.53+3372_53+3376dup	NM_001134663.1:c.53+3370_53+3376dup	NM_001134663.1:c.53+3368_53+3376dup	NM_001134663.1:c.53+3366_53+3376dup	NM_001134663.1:c.53+3363_53+3376dup	NM_001134663.1:c.53+3362_53+3376dup
SAMD13 transcript variant 2	NM_001134663.2:c.53+3358=	NM_001134663.2:c.53+3373_53+3376del	NM_001134663.2:c.53+3374_53+3376del	NM_001134663.2:c.53+3375_53+3376del	NM_001134663.2:c.53+3376del	NM_001134663.2:c.53+3376dup	NM_001134663.2:c.53+3375_53+3376dup	NM_001134663.2:c.53+3374_53+3376dup	NM_001134663.2:c.53+3373_53+3376dup	NM_001134663.2:c.53+3372_53+3376dup	NM_001134663.2:c.53+3370_53+3376dup	NM_001134663.2:c.53+3368_53+3376dup	NM_001134663.2:c.53+3366_53+3376dup	NM_001134663.2:c.53+3363_53+3376dup	NM_001134663.2:c.53+3362_53+3376dup
SAMD13 transcript variant 3	NM_001134664.1:c.53+3358=	NM_001134664.1:c.53+3373_53+3376del	NM_001134664.1:c.53+3374_53+3376del	NM_001134664.1:c.53+3375_53+3376del	NM_001134664.1:c.53+3376del	NM_001134664.1:c.53+3376dup	NM_001134664.1:c.53+3375_53+3376dup	NM_001134664.1:c.53+3374_53+3376dup	NM_001134664.1:c.53+3373_53+3376dup	NM_001134664.1:c.53+3372_53+3376dup	NM_001134664.1:c.53+3370_53+3376dup	NM_001134664.1:c.53+3368_53+3376dup	NM_001134664.1:c.53+3366_53+3376dup	NM_001134664.1:c.53+3363_53+3376dup	NM_001134664.1:c.53+3362_53+3376dup
SAMD13 transcript variant 3	NM_001134664.2:c.53+3358=	NM_001134664.2:c.53+3373_53+3376del	NM_001134664.2:c.53+3374_53+3376del	NM_001134664.2:c.53+3375_53+3376del	NM_001134664.2:c.53+3376del	NM_001134664.2:c.53+3376dup	NM_001134664.2:c.53+3375_53+3376dup	NM_001134664.2:c.53+3374_53+3376dup	NM_001134664.2:c.53+3373_53+3376dup	NM_001134664.2:c.53+3372_53+3376dup	NM_001134664.2:c.53+3370_53+3376dup	NM_001134664.2:c.53+3368_53+3376dup	NM_001134664.2:c.53+3366_53+3376dup	NM_001134664.2:c.53+3363_53+3376dup	NM_001134664.2:c.53+3362_53+3376dup
SAMD13 transcript variant X1	XM_017000377.3:c.113+3358=	XM_017000377.3:c.113+3373_113+3376del	XM_017000377.3:c.113+3374_113+3376del	XM_017000377.3:c.113+3375_113+3376del	XM_017000377.3:c.113+3376del	XM_017000377.3:c.113+3376dup	XM_017000377.3:c.113+3375_113+3376dup	XM_017000377.3:c.113+3374_113+3376dup	XM_017000377.3:c.113+3373_113+3376dup	XM_017000377.3:c.113+3372_113+3376dup	XM_017000377.3:c.113+3370_113+3376dup	XM_017000377.3:c.113+3368_113+3376dup	XM_017000377.3:c.113+3366_113+3376dup	XM_017000377.3:c.113+3363_113+3376dup	XM_017000377.3:c.113+3362_113+3376dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

41 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77836886	Oct 11, 2018 (152)
2	PJP	ss294589093	May 31, 2013 (138)
3	EVA_GENOME_DK	ss1573975702	Apr 01, 2015 (144)
4	SWEGEN	ss2987139132	Jan 10, 2018 (151)
5	SWEGEN	ss2987139133	Jan 10, 2018 (151)
6	URBANLAB	ss3646708040	Oct 11, 2018 (152)
7	EVA_DECODE	ss3687165724	Jul 12, 2019 (153)
8	EVA_DECODE	ss3687165725	Jul 12, 2019 (153)
9	EVA_DECODE	ss3687165726	Jul 12, 2019 (153)
10	EVA_DECODE	ss3687165727	Jul 12, 2019 (153)
11	EVA_DECODE	ss3687165728	Jul 12, 2019 (153)
12	EVA	ss3826275139	Apr 25, 2020 (154)
13	GNOMAD	ss3997188400	Apr 25, 2021 (155)
14	GNOMAD	ss3997188401	Apr 25, 2021 (155)
15	GNOMAD	ss3997188402	Apr 25, 2021 (155)
16	GNOMAD	ss3997188403	Apr 25, 2021 (155)
17	GNOMAD	ss3997188404	Apr 25, 2021 (155)
18	GNOMAD	ss3997188405	Apr 25, 2021 (155)
19	GNOMAD	ss3997188406	Apr 25, 2021 (155)
20	GNOMAD	ss3997188407	Apr 25, 2021 (155)
21	GNOMAD	ss3997188408	Apr 25, 2021 (155)
22	GNOMAD	ss3997188409	Apr 25, 2021 (155)
23	GNOMAD	ss3997188410	Apr 25, 2021 (155)
24	GNOMAD	ss3997188411	Apr 25, 2021 (155)
25	TOMMO_GENOMICS	ss5144848425	Apr 25, 2021 (155)
26	TOMMO_GENOMICS	ss5144848426	Apr 25, 2021 (155)
27	TOMMO_GENOMICS	ss5144848427	Apr 25, 2021 (155)
28	TOMMO_GENOMICS	ss5144848428	Apr 25, 2021 (155)
29	1000G_HIGH_COVERAGE	ss5242968796	Oct 12, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5242968797	Oct 12, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5242968798	Oct 12, 2022 (156)
32	HUGCELL_USP	ss5443958552	Oct 12, 2022 (156)
33	HUGCELL_USP	ss5443958553	Oct 12, 2022 (156)
34	SANFORD_IMAGENETICS	ss5625933802	Oct 12, 2022 (156)
35	TOMMO_GENOMICS	ss5669875370	Oct 12, 2022 (156)
36	TOMMO_GENOMICS	ss5669875371	Oct 12, 2022 (156)
37	TOMMO_GENOMICS	ss5669875372	Oct 12, 2022 (156)
38	TOMMO_GENOMICS	ss5669875374	Oct 12, 2022 (156)
39	TOMMO_GENOMICS	ss5669875375	Oct 12, 2022 (156)
40	EVA	ss5832230053	Oct 12, 2022 (156)
41	EVA	ss5832230054	Oct 12, 2022 (156)
42	The Danish reference pan genome	NC_000001.10 - 84772328	Apr 25, 2020 (154)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17286817 (NC_000001.11:84306644::A 48599/60496) Row 17286818 (NC_000001.11:84306644::AA 404/60008) Row 17286819 (NC_000001.11:84306644::AAA 23/60000)...	-	Apr 25, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17286817 (NC_000001.11:84306644::A 48599/60496) Row 17286818 (NC_000001.11:84306644::AA 404/60008) Row 17286819 (NC_000001.11:84306644::AAA 23/60000)...	-	Apr 25, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17286817 (NC_000001.11:84306644::A 48599/60496) Row 17286818 (NC_000001.11:84306644::AA 404/60008) Row 17286819 (NC_000001.11:84306644::AAA 23/60000)...	-	Apr 25, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17286817 (NC_000001.11:84306644::A 48599/60496) Row 17286818 (NC_000001.11:84306644::AA 404/60008) Row 17286819 (NC_000001.11:84306644::AAA 23/60000)...	-	Apr 25, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17286817 (NC_000001.11:84306644::A 48599/60496) Row 17286818 (NC_000001.11:84306644::AA 404/60008) Row 17286819 (NC_000001.11:84306644::AAA 23/60000)...	-	Apr 25, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17286817 (NC_000001.11:84306644::A 48599/60496) Row 17286818 (NC_000001.11:84306644::AA 404/60008) Row 17286819 (NC_000001.11:84306644::AAA 23/60000)...	-	Apr 25, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17286817 (NC_000001.11:84306644::A 48599/60496) Row 17286818 (NC_000001.11:84306644::AA 404/60008) Row 17286819 (NC_000001.11:84306644::AAA 23/60000)...	-	Apr 25, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17286817 (NC_000001.11:84306644::A 48599/60496) Row 17286818 (NC_000001.11:84306644::AA 404/60008) Row 17286819 (NC_000001.11:84306644::AAA 23/60000)...	-	Apr 25, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17286817 (NC_000001.11:84306644::A 48599/60496) Row 17286818 (NC_000001.11:84306644::AA 404/60008) Row 17286819 (NC_000001.11:84306644::AAA 23/60000)...	-	Apr 25, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17286817 (NC_000001.11:84306644::A 48599/60496) Row 17286818 (NC_000001.11:84306644::AA 404/60008) Row 17286819 (NC_000001.11:84306644::AAA 23/60000)...	-	Apr 25, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17286817 (NC_000001.11:84306644::A 48599/60496) Row 17286818 (NC_000001.11:84306644::AA 404/60008) Row 17286819 (NC_000001.11:84306644::AAA 23/60000)...	-	Apr 25, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 17286817 (NC_000001.11:84306644::A 48599/60496) Row 17286818 (NC_000001.11:84306644::AA 404/60008) Row 17286819 (NC_000001.11:84306644::AAA 23/60000)...	-	Apr 25, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 2817732 (NC_000001.10:84772327::A 11121/16422) Row 2817733 (NC_000001.10:84772327::AAA 46/16422) Row 2817734 (NC_000001.10:84772327::AA 190/16422)...	-	Apr 25, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 2817732 (NC_000001.10:84772327::A 11121/16422) Row 2817733 (NC_000001.10:84772327::AAA 46/16422) Row 2817734 (NC_000001.10:84772327::AA 190/16422)...	-	Apr 25, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 2817732 (NC_000001.10:84772327::A 11121/16422) Row 2817733 (NC_000001.10:84772327::AAA 46/16422) Row 2817734 (NC_000001.10:84772327::AA 190/16422)...	-	Apr 25, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 2817732 (NC_000001.10:84772327::A 11121/16422) Row 2817733 (NC_000001.10:84772327::AAA 46/16422) Row 2817734 (NC_000001.10:84772327::AA 190/16422)...	-	Apr 25, 2021 (155)
59	14KJPN Submission ignored due to conflicting rows: Row 3712474 (NC_000001.11:84306644::A 18239/26756) Row 3712475 (NC_000001.11:84306644::AAA 501/26756) Row 3712476 (NC_000001.11:84306644::AA 279/26756)...	-	Oct 12, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 3712474 (NC_000001.11:84306644::A 18239/26756) Row 3712475 (NC_000001.11:84306644::AAA 501/26756) Row 3712476 (NC_000001.11:84306644::AA 279/26756)...	-	Oct 12, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 3712474 (NC_000001.11:84306644::A 18239/26756) Row 3712475 (NC_000001.11:84306644::AAA 501/26756) Row 3712476 (NC_000001.11:84306644::AA 279/26756)...	-	Oct 12, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 3712474 (NC_000001.11:84306644::A 18239/26756) Row 3712475 (NC_000001.11:84306644::AAA 501/26756) Row 3712476 (NC_000001.11:84306644::AA 279/26756)...	-	Oct 12, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 3712474 (NC_000001.11:84306644::A 18239/26756) Row 3712475 (NC_000001.11:84306644::AAA 501/26756) Row 3712476 (NC_000001.11:84306644::AA 279/26756)...	-	Oct 12, 2022 (156)
64	ALFA	NC_000001.11 - 84306645	Apr 25, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
5463022332	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3997188411	NC_000001.11:84306644:AAA:	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
5463022332	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3997188410	NC_000001.11:84306644:AA:	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
5463022332	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3687165728, ss3997188409	NC_000001.11:84306644:A:	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
5463022332	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss294589093	NC_000001.9:84544916::A	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
154664, ss1573975702, ss2987139132, ss3826275139, ss5144848425, ss5625933802	NC_000001.10:84772327::A	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3646708040, ss3997188400, ss5242968796, ss5443958552, ss5669875370	NC_000001.11:84306644::A	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
5463022332	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3687165727	NC_000001.11:84306645::A	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss77836886	NT_032977.9:54744264::A	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss2987139133, ss5144848427, ss5832230053	NC_000001.10:84772327::AA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3997188401, ss5242968798, ss5443958553, ss5669875372	NC_000001.11:84306644::AA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
5463022332	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3687165726	NC_000001.11:84306645::AA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5144848426, ss5832230054	NC_000001.10:84772327::AAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3997188402, ss5242968797, ss5669875371	NC_000001.11:84306644::AAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
5463022332	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3687165725	NC_000001.11:84306645::AAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3997188403	NC_000001.11:84306644::AAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3687165724	NC_000001.11:84306645::AAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3997188404	NC_000001.11:84306644::AAAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3997188405, ss5669875375	NC_000001.11:84306644::AAAAAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3997188406	NC_000001.11:84306644::AAAAAAAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5144848428	NC_000001.10:84772327::AAAAAAAAAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5669875374	NC_000001.11:84306644::AAAAAAAAAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ss3997188407	NC_000001.11:84306644::AAAAAAAAAAA… NC_000001.11:84306644::AAAAAAAAAAAAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3997188408	NC_000001.11:84306644::AAAAAAAAAAA… NC_000001.11:84306644::AAAAAAAAAAAAAAA	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3081947428	NC_000001.11:84306644:AAAA:	NC_000001.11:84306644:AAAAAAAAAAAA… NC_000001.11:84306644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs386367519

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs386367519